Canonical Allele Identifier: CA3101609

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150321257T>G , CM000666.2:g.150321257T>G	GRCh38
NC_000004.11:g.151242409T>G , CM000666.1:g.151242409T>G	GRCh37
NC_000004.10:g.151461859T>G	NCBI36
NG_032855.1:g.699241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.7579A>C	ENSP00000498254.2:p.Thr2527Pro
ENST00000697127.1:c.1237A>C	ENSP00000513124.1:p.Thr413Pro
ENST00000697128.1:c.1916A>C
ENST00000357115.9:c.7597A>C	ENSP00000349629.3:p.Thr2533Pro
ENST00000648626.1:n.2029A>C
ENST00000648823.1:c.1294A>C
ENST00000648878.1:c.1057A>C	ENSP00000497002.1:p.Thr353Pro
ENST00000649874.1:c.634A>C	ENSP00000497438.1:p.Thr212Pro
ENST00000651035.1:c.*1925A>C	ENSP00000498673.1:n.*1925A>C
ENST00000651695.1:c.5293A>C	ENSP00000498254.1:p.Thr1765Pro
ENST00000651943.2:c.7564A>C MANE Select	ENSP00000498582.2:p.Thr2522Pro
ENST00000357115.7:c.7597A>C	ENSP00000349629.3:p.Thr2533Pro
ENST00000503716.5:n.1654A>C
ENST00000507224.5:c.7564A>C	ENSP00000422180.1:p.Thr2522Pro
ENST00000509835.5:c.3522A>C
ENST00000510413.5:c.7564A>C	ENSP00000421552.1:p.Thr2522Pro
NM_001199282.2:c.7564A>C	NP_001186211.2:p.Thr2522Pro
NM_006726.4:c.7597A>C	NP_006717.2:p.Thr2533Pro
XM_005263372.2:c.7612A>C	XP_005263429.1:p.Thr2538Pro
XM_005263373.1:c.7612A>C	XP_005263430.1:p.Thr2538Pro
XM_005263374.2:c.7579A>C	XP_005263431.1:p.Thr2527Pro
XM_005263375.2:c.7564A>C	XP_005263432.1:p.Thr2522Pro
XM_011532434.1:c.7597A>C	XP_011530736.1:p.Thr2533Pro
NM_001364905.1:c.7564A>C MANE Select	NP_001351834.1:p.Thr2522Pro
XM_005263372.3:c.7612A>C	XP_005263429.1:p.Thr2538Pro
XM_005263373.3:c.7612A>C	XP_005263430.1:p.Thr2538Pro
XM_005263374.3:c.7579A>C	XP_005263431.1:p.Thr2527Pro
XM_011532434.2:c.7597A>C	XP_011530736.1:p.Thr2533Pro
XM_017008872.2:c.7579A>C	XP_016864361.1:p.Thr2527Pro
XM_017008873.2:c.1282A>C	XP_016864362.1:p.Thr428Pro
XM_017008874.1:c.1276A>C	XP_016864363.1:p.Thr426Pro
NM_001367550.1:c.7579A>C	NP_001354479.1:p.Thr2527Pro